Mutagenetix > Incidental Mutation

Incidental Mutation 'R2504:Fbn2'

252284

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

sy, Sne, Fib-2

MMRRC Submission

040412-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R2504 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58141689-58343200 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58226431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 781 (R781Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025497]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025497
AA Change: R781Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: R781Q

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	29	52	N/A	INTRINSIC
low complexity region	68	77	N/A	INTRINSIC
EGF	148	176	1.15e1	SMART
EGF	179	208	1.26e-2	SMART
Pfam:TB	224	262	3.7e-10	PFAM
EGF_CA	276	317	8.3e-12	SMART
EGF_CA	318	359	9.25e-10	SMART
Pfam:TB	374	416	4.3e-13	PFAM
low complexity region	435	450	N/A	INTRINSIC
low complexity region	463	475	N/A	INTRINSIC
EGF	490	527	1.13e-4	SMART
EGF_CA	528	567	2.26e-13	SMART
EGF_CA	568	609	9.03e-13	SMART
EGF_CA	610	650	6.2e-11	SMART
EGF_CA	651	691	7.75e-12	SMART
Pfam:TB	707	748	5.2e-15	PFAM
EGF_CA	761	802	6.29e-12	SMART
EGF_CA	803	844	1.97e-13	SMART
EGF_CA	845	884	1.61e-9	SMART
Pfam:TB	899	935	1.8e-9	PFAM
EGF_CA	948	989	4.7e-11	SMART
Pfam:TB	1004	1044	1.3e-16	PFAM
EGF_CA	1066	1107	3.05e-10	SMART
EGF_CA	1108	1150	2.19e-11	SMART
EGF_CA	1151	1192	2.04e-11	SMART
EGF_CA	1193	1234	3.15e-12	SMART
EGF_CA	1235	1275	1.82e-8	SMART
EGF_CA	1276	1317	9.91e-10	SMART
EGF_CA	1318	1359	1.48e-8	SMART
EGF_CA	1360	1400	6.54e-10	SMART
EGF_CA	1401	1441	4.63e-10	SMART
EGF_CA	1442	1483	7.75e-12	SMART
EGF_CA	1484	1524	5.23e-9	SMART
EGF_CA	1525	1565	2.13e-9	SMART
Pfam:TB	1585	1625	3.4e-15	PFAM
EGF_CA	1643	1684	6.74e-12	SMART
EGF_CA	1685	1726	1.06e-9	SMART
Pfam:TB	1741	1783	1.2e-17	PFAM
EGF_CA	1801	1842	7.34e-13	SMART
EGF_CA	1843	1884	4.15e-12	SMART
EGF_CA	1885	1926	5.23e-9	SMART
EGF_CA	1927	1965	5.87e-12	SMART
EGF_CA	1966	2008	1.11e-12	SMART
EGF_CA	2009	2048	1.26e-11	SMART
EGF_CA	2049	2090	7.12e-11	SMART
Pfam:TB	2105	2147	1.2e-15	PFAM
EGF_CA	2164	2205	2.89e-11	SMART
EGF_CA	2206	2245	1.1e-11	SMART
EGF_CA	2246	2286	3.76e-10	SMART
EGF_CA	2287	2330	1.44e-6	SMART
EGF_CA	2331	2372	1.16e-10	SMART
Pfam:TB	2387	2429	1.9e-16	PFAM
EGF_CA	2442	2483	8.43e-13	SMART
EGF_CA	2484	2524	4.96e-10	SMART
EGF_CA	2525	2563	7.63e-11	SMART
EGF_CA	2564	2606	6.44e-9	SMART
EGF_CA	2607	2646	2.28e-9	SMART
EGF_CA	2647	2687	1.79e-7	SMART
EGF_CA	2688	2727	3.45e-9	SMART
low complexity region	2774	2786	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,909,681 (GRCm39)	D28G	probably benign	Het
Abcg1	T	A	17: 31,311,369 (GRCm39)	S125T	probably damaging	Het
Actbl2	T	C	13: 111,392,717 (GRCm39)	S351P	possibly damaging	Het
Ankrd34b	A	G	13: 92,575,569 (GRCm39)		probably null	Het
BC051665	C	T	13: 60,930,468 (GRCm39)	V295I	probably benign	Het
C1qtnf2	A	G	11: 43,381,983 (GRCm39)	N265S	probably damaging	Het
Ccdc14	C	T	16: 34,542,220 (GRCm39)	R573*	probably null	Het
Cd55b	A	T	1: 130,337,612 (GRCm39)	Y247N	probably damaging	Het
Celsr2	A	T	3: 108,320,907 (GRCm39)	V635E	probably benign	Het
Clec16a	T	C	16: 10,377,551 (GRCm39)		probably benign	Het
Clec4b1	A	G	6: 123,042,904 (GRCm39)	Y41C	probably damaging	Het
Cntn5	A	T	9: 10,172,126 (GRCm39)	D19E	probably benign	Het
Cop1	A	G	1: 159,060,375 (GRCm39)	N53S	probably damaging	Het
Cplane1	G	A	15: 8,248,700 (GRCm39)	E1750K	probably damaging	Het
Csad	A	T	15: 102,097,102 (GRCm39)	M1K	probably null	Het
Cyb5rl	A	G	4: 106,938,142 (GRCm39)	I200V	probably benign	Het
Cyp26a1	A	G	19: 37,686,790 (GRCm39)	T81A	probably damaging	Het
Cyp2d12	A	T	15: 82,443,237 (GRCm39)	H433L	probably benign	Het
D7Ertd443e	T	A	7: 133,951,208 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,097,908 (GRCm39)		probably benign	Het
Dmap1	G	T	4: 117,532,495 (GRCm39)	T357K	probably damaging	Het
Dzip1	G	T	14: 119,118,456 (GRCm39)	T759K	probably benign	Het
Elmo2	A	G	2: 165,140,607 (GRCm39)	V300A	probably damaging	Het
Eml5	T	C	12: 98,810,364 (GRCm39)	D864G	possibly damaging	Het
Ep400	A	G	5: 110,816,511 (GRCm39)	V2670A	probably damaging	Het
Epha3	T	A	16: 63,423,988 (GRCm39)	I534F	probably damaging	Het
Epha4	A	C	1: 77,359,628 (GRCm39)	Y742D	probably damaging	Het
Ergic2	A	G	6: 148,106,272 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,536,545 (GRCm39)		probably null	Het
Fam229a	A	G	4: 129,385,279 (GRCm39)	D70G	probably damaging	Het
Fbxo16	A	T	14: 65,508,163 (GRCm39)		probably benign	Het
Fbxo39	T	A	11: 72,208,111 (GRCm39)	S154R	probably benign	Het
Fer	T	A	17: 64,298,575 (GRCm39)		probably null	Het
Filip1l	A	T	16: 57,391,410 (GRCm39)	D428V	probably damaging	Het
Filip1l	A	G	16: 57,391,025 (GRCm39)	I538V	possibly damaging	Het
Fsip2	T	C	2: 82,809,954 (GRCm39)	I2091T	possibly damaging	Het
Glyat	A	C	19: 12,628,762 (GRCm39)	T186P	possibly damaging	Het
Gm10604	A	G	4: 11,980,083 (GRCm39)	S74P	unknown	Het
Gm4787	T	G	12: 81,425,911 (GRCm39)	K82N	possibly damaging	Het
Hectd4	T	C	5: 121,358,683 (GRCm39)	I50T	unknown	Het
Hectd4	T	C	5: 121,402,030 (GRCm39)	S373P	possibly damaging	Het
Hmcn1	A	T	1: 150,562,618 (GRCm39)	C2313*	probably null	Het
Hrob	T	C	11: 102,146,122 (GRCm39)	Y133H	possibly damaging	Het
Igfn1	A	T	1: 135,897,054 (GRCm39)	S1171T	probably benign	Het
Ints8	T	C	4: 11,241,642 (GRCm39)	D267G	probably benign	Het
Itln1	A	G	1: 171,356,727 (GRCm39)	C251R	probably damaging	Het
Jcad	C	T	18: 4,674,026 (GRCm39)	T596M	probably damaging	Het
Kcnj16	C	T	11: 110,916,409 (GRCm39)	T357M	probably benign	Het
Kif13a	G	A	13: 46,967,676 (GRCm39)	T346M	probably damaging	Het
Klhl24	G	A	16: 19,938,917 (GRCm39)	A491T	probably benign	Het
Kntc1	C	T	5: 123,916,410 (GRCm39)	Q748*	probably null	Het
Krt25	T	A	11: 99,208,122 (GRCm39)	K369*	probably null	Het
Krt75	C	T	15: 101,476,466 (GRCm39)	R433Q	probably benign	Het
Krt76	A	G	15: 101,793,293 (GRCm39)	F582L	unknown	Het
Lysmd1	G	A	3: 95,045,708 (GRCm39)	V182I	probably benign	Het
Mab21l2	T	A	3: 86,454,862 (GRCm39)	E46V	probably damaging	Het
Magi2	A	T	5: 20,563,934 (GRCm39)	K355N	probably damaging	Het
Marchf10	T	C	11: 105,276,398 (GRCm39)	D630G	probably damaging	Het
Mast4	A	T	13: 102,875,147 (GRCm39)	I1215N	probably damaging	Het
Nckap1	G	A	2: 80,360,562 (GRCm39)	T523I	probably benign	Het
Nexmif	T	A	X: 103,127,999 (GRCm39)	D1306V	probably damaging	Het
Nfkb1	A	C	3: 135,295,090 (GRCm39)	I918R	possibly damaging	Het
Nt5el	A	G	13: 105,246,250 (GRCm39)	I270M	probably benign	Het
Nup50	A	T	15: 84,817,859 (GRCm39)	T93S	probably benign	Het
Nwd2	T	C	5: 63,961,717 (GRCm39)	Y434H	probably benign	Het
Or13a28	T	C	7: 140,218,397 (GRCm39)	V261A	probably benign	Het
Osbpl1a	C	A	18: 13,038,088 (GRCm39)	V288L	probably benign	Het
Pan3	A	G	5: 147,463,846 (GRCm39)	E562G	possibly damaging	Het
Pappa	T	A	4: 65,099,126 (GRCm39)	Y548*	probably null	Het
Phf3	A	T	1: 30,849,870 (GRCm39)	L1181Q	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pkhd1l1	T	C	15: 44,348,824 (GRCm39)	I240T	probably damaging	Het
Pole	G	A	5: 110,438,368 (GRCm39)		probably null	Het
Polq	T	A	16: 36,832,304 (GRCm39)	S15T	unknown	Het
Prrt2	T	C	7: 126,619,396 (GRCm39)	E23G	possibly damaging	Het
Prss37	A	T	6: 40,494,760 (GRCm39)		probably null	Het
Prune2	T	C	19: 16,977,400 (GRCm39)	L45P	probably damaging	Het
Psd	A	T	19: 46,313,352 (GRCm39)	M6K	possibly damaging	Het
Psmd1	A	G	1: 86,017,719 (GRCm39)	E510G	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Pxdn	T	A	12: 30,053,405 (GRCm39)	I1194N	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rgmb	C	A	17: 16,027,909 (GRCm39)	R270L	probably benign	Het
Rpgrip1l	A	G	8: 92,007,344 (GRCm39)		probably null	Het
Rps2	G	A	17: 24,939,353 (GRCm39)		probably benign	Het
Rsbn1l	G	T	5: 21,107,364 (GRCm39)	A550E	probably damaging	Het
S1pr4	C	T	10: 81,335,138 (GRCm39)	R112H	probably benign	Het
Scfd2	T	C	5: 74,691,838 (GRCm39)	N148S	probably damaging	Het
Scin	C	T	12: 40,131,705 (GRCm39)	M276I	probably benign	Het
Sec24d	T	C	3: 123,147,255 (GRCm39)	I708T	possibly damaging	Het
Skint11	T	A	4: 114,086,009 (GRCm39)	F41I	possibly damaging	Het
Slc15a4	A	T	5: 127,694,303 (GRCm39)	F44Y	possibly damaging	Het
Slc6a18	A	G	13: 73,823,925 (GRCm39)	Y72H	probably benign	Het
Slc7a11	A	T	3: 50,332,195 (GRCm39)		probably null	Het
Slc7a14	G	T	3: 31,291,650 (GRCm39)	N209K	possibly damaging	Het
Sstr2	T	C	11: 113,515,257 (GRCm39)	C59R	probably damaging	Het
Stab1	A	G	14: 30,884,997 (GRCm39)		probably null	Het
Stag1	G	T	9: 100,748,263 (GRCm39)	S475I	probably damaging	Het
Stxbp5l	A	G	16: 36,936,029 (GRCm39)	Y1183H	probably damaging	Het
Svep1	A	T	4: 58,135,628 (GRCm39)		probably null	Het
Tm9sf2	A	G	14: 122,396,096 (GRCm39)	T653A	probably benign	Het
Tmeff1	T	C	4: 48,662,059 (GRCm39)	S366P	possibly damaging	Het
Tnnt2	G	T	1: 135,779,803 (GRCm39)	W300L	probably damaging	Het
Traj32	A	G	14: 54,423,560 (GRCm39)		probably benign	Het
Trp53bp2	A	T	1: 182,269,204 (GRCm39)	M223L	probably benign	Het
Tsga10	G	A	1: 37,854,758 (GRCm39)	T246M	probably damaging	Het
Txn2	A	T	15: 77,810,870 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,768,542 (GRCm39)	F450I	probably damaging	Het
Usp47	T	C	7: 111,703,677 (GRCm39)		probably null	Het
Vars2	C	T	17: 35,975,685 (GRCm39)	R244Q	probably damaging	Het
Xrra1	T	A	7: 99,546,803 (GRCm39)	F251L	probably damaging	Het
Zfp804a	G	A	2: 82,087,863 (GRCm39)	R564Q	probably benign	Het
Zfp983	T	C	17: 21,877,883 (GRCm39)	C29R	probably damaging	Het

Other mutations in Fbn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Fbn2	APN	18	58,170,881 (GRCm39)	missense	possibly damaging	0.81
IGL00780:Fbn2	APN	18	58,229,060 (GRCm39)	missense	probably damaging	1.00
IGL00923:Fbn2	APN	18	58,145,397 (GRCm39)	missense	probably benign	0.00
IGL01011:Fbn2	APN	18	58,228,312 (GRCm39)	splice site	probably benign
IGL01123:Fbn2	APN	18	58,237,153 (GRCm39)	missense	possibly damaging	0.62
IGL01304:Fbn2	APN	18	58,194,817 (GRCm39)	missense	probably damaging	0.97
IGL01339:Fbn2	APN	18	58,246,442 (GRCm39)	missense	possibly damaging	0.75
IGL01465:Fbn2	APN	18	58,336,905 (GRCm39)	missense	probably null	0.67
IGL01608:Fbn2	APN	18	58,186,776 (GRCm39)	nonsense	probably null
IGL01682:Fbn2	APN	18	58,205,743 (GRCm39)	missense	probably damaging	1.00
IGL01752:Fbn2	APN	18	58,209,049 (GRCm39)	splice site	probably null
IGL01764:Fbn2	APN	18	58,178,423 (GRCm39)	missense	probably damaging	1.00
IGL02002:Fbn2	APN	18	58,247,625 (GRCm39)	missense	probably benign	0.01
IGL02010:Fbn2	APN	18	58,170,794 (GRCm39)	missense	probably damaging	0.99
IGL02029:Fbn2	APN	18	58,342,675 (GRCm39)	missense	probably benign	0.04
IGL02037:Fbn2	APN	18	58,229,087 (GRCm39)	missense	probably damaging	1.00
IGL02350:Fbn2	APN	18	58,237,067 (GRCm39)	missense	possibly damaging	0.71
IGL02357:Fbn2	APN	18	58,237,067 (GRCm39)	missense	possibly damaging	0.71
IGL02653:Fbn2	APN	18	58,209,777 (GRCm39)	missense	probably benign
IGL03233:Fbn2	APN	18	58,235,449 (GRCm39)	missense	probably benign	0.39
IGL03347:Fbn2	APN	18	58,146,737 (GRCm39)	missense	probably damaging	1.00
IGL03410:Fbn2	APN	18	58,183,315 (GRCm39)	missense	possibly damaging	0.95
pinch	UTSW	18	58,202,256 (GRCm39)	missense	probably damaging	1.00
stick	UTSW	18	58,204,891 (GRCm39)	missense	possibly damaging	0.94
tweak	UTSW	18	58,191,461 (GRCm39)	missense	probably damaging	1.00
BB009:Fbn2	UTSW	18	58,153,555 (GRCm39)	missense	possibly damaging	0.61
BB019:Fbn2	UTSW	18	58,153,555 (GRCm39)	missense	possibly damaging	0.61
PIT4434001:Fbn2	UTSW	18	58,229,134 (GRCm39)	missense	probably damaging	0.99
R0020:Fbn2	UTSW	18	58,238,236 (GRCm39)	missense	probably damaging	1.00
R0069:Fbn2	UTSW	18	58,202,256 (GRCm39)	missense	probably damaging	1.00
R0107:Fbn2	UTSW	18	58,189,275 (GRCm39)	missense	probably benign	0.00
R0116:Fbn2	UTSW	18	58,235,445 (GRCm39)	nonsense	probably null
R0277:Fbn2	UTSW	18	58,178,389 (GRCm39)	missense	probably damaging	1.00
R0284:Fbn2	UTSW	18	58,183,362 (GRCm39)	splice site	probably benign
R0316:Fbn2	UTSW	18	58,246,397 (GRCm39)	missense	probably damaging	1.00
R0323:Fbn2	UTSW	18	58,178,389 (GRCm39)	missense	probably damaging	1.00
R0421:Fbn2	UTSW	18	58,160,876 (GRCm39)	splice site	probably benign
R0455:Fbn2	UTSW	18	58,168,408 (GRCm39)	missense	probably damaging	1.00
R0504:Fbn2	UTSW	18	58,172,532 (GRCm39)	missense	possibly damaging	0.94
R0520:Fbn2	UTSW	18	58,146,821 (GRCm39)	missense	probably damaging	1.00
R0632:Fbn2	UTSW	18	58,170,819 (GRCm39)	missense	probably damaging	1.00
R0638:Fbn2	UTSW	18	58,178,446 (GRCm39)	missense	probably damaging	0.98
R0645:Fbn2	UTSW	18	58,191,461 (GRCm39)	missense	probably damaging	1.00
R1051:Fbn2	UTSW	18	58,145,425 (GRCm39)	missense	probably damaging	0.99
R1209:Fbn2	UTSW	18	58,203,088 (GRCm39)	missense	probably benign	0.00
R1319:Fbn2	UTSW	18	58,333,682 (GRCm39)	missense	possibly damaging	0.88
R1400:Fbn2	UTSW	18	58,213,265 (GRCm39)	missense	possibly damaging	0.90
R1437:Fbn2	UTSW	18	58,186,731 (GRCm39)	missense	possibly damaging	0.68
R1463:Fbn2	UTSW	18	58,143,452 (GRCm39)	missense	probably benign
R1612:Fbn2	UTSW	18	58,194,824 (GRCm39)	missense	probably damaging	1.00
R1623:Fbn2	UTSW	18	58,181,620 (GRCm39)	missense	possibly damaging	0.61
R1629:Fbn2	UTSW	18	58,159,610 (GRCm39)	missense	probably damaging	1.00
R1639:Fbn2	UTSW	18	58,191,534 (GRCm39)	missense	probably benign	0.41
R1722:Fbn2	UTSW	18	58,181,124 (GRCm39)	critical splice acceptor site	probably null
R1749:Fbn2	UTSW	18	58,183,348 (GRCm39)	missense	probably benign	0.35
R1802:Fbn2	UTSW	18	58,186,048 (GRCm39)	nonsense	probably null
R1850:Fbn2	UTSW	18	58,172,377 (GRCm39)	splice site	probably benign
R1913:Fbn2	UTSW	18	58,194,814 (GRCm39)	missense	probably damaging	1.00
R2045:Fbn2	UTSW	18	58,223,730 (GRCm39)	missense	probably damaging	1.00
R2064:Fbn2	UTSW	18	58,181,921 (GRCm39)	missense	probably damaging	0.99
R2143:Fbn2	UTSW	18	58,186,065 (GRCm39)	missense	possibly damaging	0.65
R2144:Fbn2	UTSW	18	58,186,065 (GRCm39)	missense	possibly damaging	0.65
R2149:Fbn2	UTSW	18	58,235,397 (GRCm39)	splice site	probably null
R2207:Fbn2	UTSW	18	58,214,471 (GRCm39)	nonsense	probably null
R2219:Fbn2	UTSW	18	58,186,035 (GRCm39)	missense	possibly damaging	0.79
R2263:Fbn2	UTSW	18	58,228,248 (GRCm39)	splice site	probably benign
R2375:Fbn2	UTSW	18	58,169,038 (GRCm39)	missense	probably damaging	1.00
R2424:Fbn2	UTSW	18	58,336,859 (GRCm39)	missense	probably damaging	0.99
R2879:Fbn2	UTSW	18	58,202,314 (GRCm39)	missense	probably damaging	0.97
R3040:Fbn2	UTSW	18	58,226,459 (GRCm39)	missense	probably damaging	1.00
R3080:Fbn2	UTSW	18	58,282,122 (GRCm39)	missense	probably damaging	0.97
R3625:Fbn2	UTSW	18	58,194,814 (GRCm39)	missense	probably damaging	1.00
R3901:Fbn2	UTSW	18	58,199,083 (GRCm39)	missense	probably damaging	0.97
R4089:Fbn2	UTSW	18	58,186,841 (GRCm39)	missense	probably benign	0.01
R4133:Fbn2	UTSW	18	58,229,034 (GRCm39)	missense	possibly damaging	0.82
R4155:Fbn2	UTSW	18	58,156,359 (GRCm39)	nonsense	probably null
R4288:Fbn2	UTSW	18	58,168,411 (GRCm39)	missense	probably damaging	0.98
R4289:Fbn2	UTSW	18	58,168,411 (GRCm39)	missense	probably damaging	0.98
R4363:Fbn2	UTSW	18	58,282,122 (GRCm39)	missense	probably damaging	0.97
R4559:Fbn2	UTSW	18	58,209,146 (GRCm39)	missense	probably benign	0.00
R4601:Fbn2	UTSW	18	58,186,805 (GRCm39)	missense	probably damaging	1.00
R4609:Fbn2	UTSW	18	58,323,341 (GRCm39)	nonsense	probably null
R4626:Fbn2	UTSW	18	58,146,819 (GRCm39)	nonsense	probably null
R4638:Fbn2	UTSW	18	58,143,376 (GRCm39)	missense	probably benign	0.01
R4675:Fbn2	UTSW	18	58,173,265 (GRCm39)	missense	possibly damaging	0.95
R4707:Fbn2	UTSW	18	58,189,344 (GRCm39)	missense	probably damaging	1.00
R4758:Fbn2	UTSW	18	58,159,458 (GRCm39)	missense	probably benign	0.00
R4945:Fbn2	UTSW	18	58,183,325 (GRCm39)	missense	possibly damaging	0.53
R4955:Fbn2	UTSW	18	58,191,455 (GRCm39)	missense	possibly damaging	0.61
R4980:Fbn2	UTSW	18	58,143,703 (GRCm39)	missense	probably benign	0.05
R4998:Fbn2	UTSW	18	58,205,703 (GRCm39)	missense	probably damaging	1.00
R5133:Fbn2	UTSW	18	58,172,412 (GRCm39)	missense	probably damaging	0.99
R5322:Fbn2	UTSW	18	58,172,387 (GRCm39)	missense	probably benign	0.00
R5414:Fbn2	UTSW	18	58,226,477 (GRCm39)	missense	probably damaging	0.96
R5538:Fbn2	UTSW	18	58,204,973 (GRCm39)	missense	probably benign	0.22
R5557:Fbn2	UTSW	18	58,248,731 (GRCm39)	missense	probably benign	0.00
R5754:Fbn2	UTSW	18	58,257,383 (GRCm39)	missense	probably benign	0.04
R5769:Fbn2	UTSW	18	58,238,271 (GRCm39)	missense	probably damaging	1.00
R5790:Fbn2	UTSW	18	58,209,768 (GRCm39)	missense	probably benign	0.34
R5830:Fbn2	UTSW	18	58,247,541 (GRCm39)	missense	probably benign	0.01
R5845:Fbn2	UTSW	18	58,186,840 (GRCm39)	missense	possibly damaging	0.89
R5880:Fbn2	UTSW	18	58,156,354 (GRCm39)	nonsense	probably null
R5907:Fbn2	UTSW	18	58,178,409 (GRCm39)	missense	probably damaging	1.00
R5948:Fbn2	UTSW	18	58,170,121 (GRCm39)	missense	probably damaging	1.00
R5955:Fbn2	UTSW	18	58,177,328 (GRCm39)	missense	probably damaging	1.00
R5974:Fbn2	UTSW	18	58,181,992 (GRCm39)	missense	probably damaging	1.00
R6010:Fbn2	UTSW	18	58,202,596 (GRCm39)	missense	probably benign	0.31
R6024:Fbn2	UTSW	18	58,209,908 (GRCm39)	missense	probably benign	0.03
R6037:Fbn2	UTSW	18	58,177,295 (GRCm39)	missense	probably benign	0.05
R6037:Fbn2	UTSW	18	58,177,295 (GRCm39)	missense	probably benign	0.05
R6315:Fbn2	UTSW	18	58,188,025 (GRCm39)	critical splice acceptor site	probably null
R6437:Fbn2	UTSW	18	58,246,435 (GRCm39)	missense	probably damaging	1.00
R6519:Fbn2	UTSW	18	58,196,647 (GRCm39)	missense	possibly damaging	0.61
R6520:Fbn2	UTSW	18	58,235,462 (GRCm39)	missense	probably damaging	1.00
R6734:Fbn2	UTSW	18	58,169,032 (GRCm39)	missense	probably damaging	1.00
R6755:Fbn2	UTSW	18	58,246,405 (GRCm39)	missense	possibly damaging	0.89
R6789:Fbn2	UTSW	18	58,143,686 (GRCm39)	missense	probably benign	0.00
R6801:Fbn2	UTSW	18	58,246,420 (GRCm39)	missense	probably benign	0.04
R6862:Fbn2	UTSW	18	58,257,393 (GRCm39)	missense	probably benign	0.04
R6900:Fbn2	UTSW	18	58,209,903 (GRCm39)	missense	probably benign
R6906:Fbn2	UTSW	18	58,204,891 (GRCm39)	missense	possibly damaging	0.94
R6919:Fbn2	UTSW	18	58,257,259 (GRCm39)	splice site	probably null
R6950:Fbn2	UTSW	18	58,168,993 (GRCm39)	missense	probably null	0.21
R6985:Fbn2	UTSW	18	58,201,460 (GRCm39)	missense	probably damaging	1.00
R7056:Fbn2	UTSW	18	58,209,798 (GRCm39)	missense	probably benign
R7199:Fbn2	UTSW	18	58,186,833 (GRCm39)	nonsense	probably null
R7219:Fbn2	UTSW	18	58,186,099 (GRCm39)	missense	probably benign	0.04
R7226:Fbn2	UTSW	18	58,170,142 (GRCm39)	missense	probably damaging	1.00
R7260:Fbn2	UTSW	18	58,199,188 (GRCm39)	missense	probably benign	0.14
R7414:Fbn2	UTSW	18	58,229,122 (GRCm39)	missense	probably damaging	1.00
R7485:Fbn2	UTSW	18	58,204,912 (GRCm39)	missense	possibly damaging	0.50
R7523:Fbn2	UTSW	18	58,199,152 (GRCm39)	missense	probably benign	0.01
R7549:Fbn2	UTSW	18	58,153,536 (GRCm39)	nonsense	probably null
R7619:Fbn2	UTSW	18	58,213,299 (GRCm39)	missense	possibly damaging	0.46
R7638:Fbn2	UTSW	18	58,238,208 (GRCm39)	missense	probably damaging	1.00
R7789:Fbn2	UTSW	18	58,172,385 (GRCm39)	missense	probably benign	0.22
R7932:Fbn2	UTSW	18	58,153,555 (GRCm39)	missense	possibly damaging	0.61
R8013:Fbn2	UTSW	18	58,237,153 (GRCm39)	missense	possibly damaging	0.62
R8076:Fbn2	UTSW	18	58,159,496 (GRCm39)	nonsense	probably null
R8300:Fbn2	UTSW	18	58,342,687 (GRCm39)	missense	probably benign
R8345:Fbn2	UTSW	18	58,191,503 (GRCm39)	missense	probably damaging	1.00
R8487:Fbn2	UTSW	18	58,153,462 (GRCm39)	missense	possibly damaging	0.53
R8520:Fbn2	UTSW	18	58,171,270 (GRCm39)	critical splice donor site	probably null
R8781:Fbn2	UTSW	18	58,194,719 (GRCm39)	missense	possibly damaging	0.88
R8801:Fbn2	UTSW	18	58,287,021 (GRCm39)	missense	probably damaging	1.00
R8857:Fbn2	UTSW	18	58,286,933 (GRCm39)	missense	probably damaging	1.00
R8878:Fbn2	UTSW	18	58,257,318 (GRCm39)	missense	probably benign	0.30
R8909:Fbn2	UTSW	18	58,192,508 (GRCm39)	missense	possibly damaging	0.88
R8973:Fbn2	UTSW	18	58,286,928 (GRCm39)	missense	probably damaging	1.00
R8975:Fbn2	UTSW	18	58,286,928 (GRCm39)	missense	probably damaging	1.00
R8979:Fbn2	UTSW	18	58,286,928 (GRCm39)	missense	probably damaging	1.00
R8991:Fbn2	UTSW	18	58,239,395 (GRCm39)	missense	probably damaging	1.00
R9003:Fbn2	UTSW	18	58,176,591 (GRCm39)	missense	probably damaging	1.00
R9205:Fbn2	UTSW	18	58,192,428 (GRCm39)	missense	probably damaging	1.00
R9215:Fbn2	UTSW	18	58,209,747 (GRCm39)	missense	probably damaging	1.00
R9263:Fbn2	UTSW	18	58,257,344 (GRCm39)	missense	probably damaging	1.00
R9307:Fbn2	UTSW	18	58,342,856 (GRCm39)	missense	probably benign
R9337:Fbn2	UTSW	18	58,342,723 (GRCm39)	missense	probably benign
R9403:Fbn2	UTSW	18	58,199,179 (GRCm39)	missense	probably damaging	1.00
R9501:Fbn2	UTSW	18	58,209,130 (GRCm39)	missense	probably damaging	1.00
R9503:Fbn2	UTSW	18	58,171,313 (GRCm39)	missense	probably damaging	1.00
R9509:Fbn2	UTSW	18	58,247,550 (GRCm39)	missense	probably benign	0.22
R9561:Fbn2	UTSW	18	58,181,611 (GRCm39)	nonsense	probably null
R9565:Fbn2	UTSW	18	58,228,298 (GRCm39)	missense	probably benign	0.20
R9652:Fbn2	UTSW	18	58,146,722 (GRCm39)	critical splice donor site	probably null
R9659:Fbn2	UTSW	18	58,342,654 (GRCm39)	missense	probably damaging	0.98
R9679:Fbn2	UTSW	18	58,201,433 (GRCm39)	missense	probably damaging	1.00
R9683:Fbn2	UTSW	18	58,186,099 (GRCm39)	missense	probably benign	0.04
R9773:Fbn2	UTSW	18	58,143,481 (GRCm39)	missense	probably benign
X0062:Fbn2	UTSW	18	58,189,285 (GRCm39)	missense	probably damaging	1.00
Z1177:Fbn2	UTSW	18	58,202,262 (GRCm39)	missense	probably damaging	1.00
Z1177:Fbn2	UTSW	18	58,188,554 (GRCm39)	missense	probably benign	0.00
Z1177:Fbn2	UTSW	18	58,143,451 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGCTGCAAAACTCAGTTCG -3'
(R):5'- ACCAGTGGAGTGTCTTGTATCC -3'

Sequencing Primer
(F):5'- GCAAAACTCAGTTCGAATGCTTCTG -3'
(R):5'- CAAACAGGTGTCTGTGAG -3'

Posted On

2014-12-04